Product Details

SNP ID

rs147336927

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7436206 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTTTTTTTAGGTCTAGTTCACC[G/T]CCGGGACCCTCGCTTTCCTCCCCAG

Phenotype

MIM: 100710 MIM: 601514 MIM: 613936

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

C17orf74 PubMed Links

Gene Details

Gene

C17orf74

Gene Name

chromosome 17 open reading frame 74

There are no transcripts associated with this gene.

Gene

CHRNB1

Gene Name

cholinergic receptor nicotinic beta 1 subunit

There are no transcripts associated with this gene.

Gene

FGF11

Gene Name

fibroblast growth factor 11

There are no transcripts associated with this gene.

Gene

LOC107983988

Gene Name

proteoglycan 4-like

There are no transcripts associated with this gene.

Gene

TMEM102

Gene Name

transmembrane protein 102

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320444.1	626	Missense Mutation	CGC,CTC	R76L	NP_001307373.1
NM_178518.2	626	Missense Mutation	CGC,CTC	R76L	NP_848613.1

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